Variant report

Variant	rs582678
Chromosome Location	chr12:121271223-121271224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121262055..121264947-chr12:121269553..121271661,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1055059	1.00[ASN][1000 genomes]
rs10849777	1.00[ASN][1000 genomes]
rs10849797	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065179	1.00[ASN][1000 genomes]
rs11065201	1.00[ASN][1000 genomes]
rs11065207	1.00[ASN][1000 genomes]
rs11065210	1.00[ASN][1000 genomes]
rs11065213	1.00[ASN][1000 genomes]
rs11065226	1.00[ASN][1000 genomes]
rs11065227	1.00[ASN][1000 genomes]
rs11065228	1.00[ASN][1000 genomes]
rs11065253	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065258	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065267	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.86[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065281	0.96[EUR][1000 genomes]
rs11065285	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065294	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065309	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065315	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065318	1.00[ASN][1000 genomes]
rs11065326	1.00[ASN][1000 genomes]
rs11065328	1.00[ASN][1000 genomes]
rs11065334	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11065347	1.00[ASN][1000 genomes]
rs11065353	1.00[ASN][1000 genomes]
rs1151854	0.82[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151855	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151860	1.00[CEU][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151865	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1186042	1.00[ASN][1000 genomes]
rs12366451	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12368617	1.00[ASN][1000 genomes]
rs12370534	1.00[ASN][1000 genomes]
rs1696358	1.00[ASN][1000 genomes]
rs1696362	0.89[CEU][hapmap]
rs1718207	1.00[ASN][1000 genomes]
rs1732397	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs1732399	1.00[ASN][1000 genomes]
rs2454728	1.00[ASN][1000 genomes]
rs2701179	1.00[ASN][1000 genomes]
rs497457	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498255	1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513940	0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs515784	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519785	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530162	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554197	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572009	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574993	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590556	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591489	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59818945	1.00[ASN][1000 genomes]
rs61108232	1.00[ASN][1000 genomes]
rs61414515	1.00[ASN][1000 genomes]
rs61624288	1.00[ASN][1000 genomes]
rs626103	1.00[AMR][1000 genomes]
rs627211	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639343	1.00[CEU][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645661	1.00[CEU][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645786	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647336	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs648262	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs651156	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660878	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs671815	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708784	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708788	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295098	1.00[CHB][hapmap]
rs73409953	1.00[ASN][1000 genomes]
rs73411916	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	1.00[ASN][1000 genomes]
rs73413874	1.00[ASN][1000 genomes]
rs7960932	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1045178	chr12:121231461-121271734	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121222200-121274000	Weak transcription	Lung	lung
2	chr12:121248200-121272200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:121248800-121271600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:121248800-121271800	Weak transcription	Dnd41	blood
5	chr12:121260800-121272400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:121261600-121274400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:121264600-121272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:121264800-121275000	Enhancers	Brain Hippocampus Middle	brain
9	chr12:121265200-121272000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:121265400-121273800	Enhancers	Brain Substantia Nigra	brain
11	chr12:121265400-121274200	Enhancers	Brain Angular Gyrus	brain
12	chr12:121266000-121274200	Enhancers	Brain Cingulate Gyrus	brain
13	chr12:121266400-121274600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:121266600-121274000	Enhancers	Brain Anterior Caudate	brain
15	chr12:121266800-121271600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:121266800-121276200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:121267200-121282800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:121267400-121272000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:121267400-121272600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr12:121267600-121274000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:121267600-121285800	Weak transcription	Colonic Mucosa	Colon
22	chr12:121267800-121274800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr12:121268400-121273800	Weak transcription	HSMM	muscle
24	chr12:121268400-121274000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:121268400-121274800	Enhancers	Rectal Smooth Muscle	rectum
26	chr12:121268600-121272200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:121268600-121272600	Enhancers	Fetal Heart	heart
28	chr12:121268600-121272600	Weak transcription	NHEK	skin
29	chr12:121268600-121273200	Enhancers	Right Ventricle	heart
30	chr12:121268600-121274200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:121268600-121274600	Enhancers	Adipose Nuclei	Adipose
32	chr12:121268600-121274600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr12:121268600-121274800	Enhancers	Colon Smooth Muscle	Colon
34	chr12:121268600-121276200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:121268600-121276600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr12:121269000-121273600	Weak transcription	Esophagus	oesophagus
37	chr12:121269000-121273800	Weak transcription	Gastric	stomach
38	chr12:121269000-121278400	Weak transcription	Ovary	ovary
39	chr12:121269200-121271600	Weak transcription	Pancreas	Pancrea
40	chr12:121269200-121272000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:121269200-121272000	Weak transcription	Placenta	Placenta
42	chr12:121269200-121272000	Weak transcription	Left Ventricle	heart
43	chr12:121269200-121272000	Weak transcription	Right Atrium	heart
44	chr12:121269200-121272000	Enhancers	A549	lung
45	chr12:121269200-121274200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:121269400-121272200	Weak transcription	Fetal Brain Male	brain
47	chr12:121269600-121272000	Weak transcription	HSMMtube	muscle
48	chr12:121269600-121272200	Weak transcription	Fetal Lung	lung
49	chr12:121269600-121274000	Weak transcription	Stomach Mucosa	stomach
50	chr12:121269600-121274200	Weak transcription	Liver	Liver

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